protein
Neurexin-1-beta
Gene
NRXN1
Organism
Homo sapiens(9606)
Length
472 aa
Mass
50,424 Da
Neurexin-1-beta (NRXN1) is a neuronal cell surface protein encoded by the NRXN1 gene that functions in cell recognition and adhesion (UniProt: P58400). It forms intracellular junctions through binding to neuroligins and participates in synapse formation. The protein operates as part of a trans-synaptic complex that includes cerebellins and postsynaptic GRID1, regulating NMDA and AMPA receptor activity at hippocampal synapses without affecting synapse formation itself.
NRXN1 is primarily expressed in neuronal tissues where it facilitates synaptic junction development and function. The NRXN1B-CBLN2-GRID1 complex transduces presynaptic signals into postsynaptic NMDAR responses, linking presynaptic and postsynaptic signaling mechanisms. These synaptic roles position NRXN1 as a key mediator of synaptic communication and plasticity.
NRXN1 is classified as SFARI Category 1, indicating strong evidence for association with autism spectrum disorder (SFARI Cat 1). This classification reflects the gene's established relevance to neurodevelopmental pathology given its critical roles in synaptic connectivity and neurotransmitter receptor regulation.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
High confidence — strong genetic evidence from multiple studies
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
Neuronal cell surface protein involved in cell recognition and cell adhesion by forming intracellular junctions through binding to neuroligins (By similarity). Plays a role in formation of synaptic junctions (By similarity). Functions as part of a trans-synaptic complex by binding to cerebellins and postsynaptic GRID1. This interaction helps regulate the activity of NMDA and AMPA receptors at hippocampal synapses without affecting synapse formation. NRXN1B-CBLN2-GRID1 complex transduce presynaptic signals into postsynaptic NMDAR response (By similarity)
Sources
Last updated 5/6/2026, 5:25:27 AM